Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy

Molecular Vision

Volumn 11, Issue , 2005, Pages 738-743

  Shan, Minghua ^a   Dong, Bing ^a   Zhao, Xueqin ^a   Wang, Jingzhao ^a   Li, Genlin ^a   Yang, Yongsheng ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; GENOMIC DNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; CHINA; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CYP4V2 GENE; EYE FUNDUS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN GENOME; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FAMILY; RETINA DYSTROPHY; SINGLE STRAND CONFORMATION POLYMORPHISM;

CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA;

EID: 26244436316     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Bietti, G. Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin Mbl Augenheilk 1937; 99:737-757.
2. Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. Bietti's crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol 1989; 107:213-21.
3. Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol 1994; 118:569-82.
4. Hu DN. Genetic aspects of retinitis pigmentosa in China. Am J Med Genet 1982; 12:51-6.
5. Hu, D.-N. Ophthalmic genetics in China. Ophthal Paediat Genet 1983; 2:39-45.
6. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ. Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab 1998; 65:143-54.
7. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001; 42:1707-14.
8. Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 2000; 67:1309-13.
9. Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004; 74:817-26.
10. Wada Y, Itabashi T, Sato H, Kawamura M, Tada A, Tamai M. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol 2005; 139:894-9.
11. Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 2005; 42:e38.
12. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80:805-11.